Carnitine palmitoyltransferase II deficiency, lethal neonatal

Preferred Label : Carnitine palmitoyltransferase II deficiency, lethal neonatal;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Carnitine palmitoyltransferase II deficiency, neonatal; Cpt2 deficiency, lethal neonatal; Cpt II deficiency, lethal neonatal; Carnitine palmitoyltransferase II deficiency, antenatal;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carnitine palmitoyltransferase II gene (CPT2, 600650.0009);

Laboratory abnormalities : Increased liver function tests; Increased plasma long-chain acylcarnitines; Increased tissue long-chain acylcarnitines; Decreased plasma total and free carnitine; Decreased tissue total and free carnitine; Increased serum long-chain fatty acids; Increased tissue long-chain fatty acids; Long-chain dicarboxylic aciduria; Hyperammonemia; Increased total bilirubin; Increased tissue levels of triglycerides; Increased tissue levels of free fatty acids; Severely decreased palmitate oxidation; Severely decreased carnitine palmitoyltransferase II (CPT II) activity (less than 10% of normal) in multiple tissues; Absence of CPT II protein;

Prefixed ID : #608836;

Détails

Origin ID

608836;

UMLS CUI

C1833518;

Broader ORDO disease(s)
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase II deficiency, neonatal form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, neonatal form [ICD-11 More detail]
- carnitine palmitoyltransferase II deficiency, lethal neonatal [MeSH concept]
- carnitine palmitoyltransferase II deficiency, lethal neonatal [MeSH Supplementary Concept]
DO Cross reference
- carnitine palmitoyltransferase II deficiency [DO Concept]
Genes related to phenotype
- Carnitine palmitoyltransferase II [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Abnormality of neuronal migration [HPO term]
- Agenesis of corpus callosum [HPO term]
- Antenatal intracerebral hemorrhage [HPO term]
- Apnea [HPO term]
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal ganglia cysts [HPO term]
- Bulbous nose [HPO term]
- Cardiomegaly [HPO term]
- Cataract [HPO term]
- Death in infancy [HPO term]
- Decreased plasma free carnitine [HPO term]
- Decreased plasma total carnitine [HPO term]
- Decreased serum bicarbonate concentration [HPO term]
- Diarrhea [HPO term]
- Dilated cardiomyopathy [HPO term]
- Dysplastic or absent corpus callosum [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated circulating creatinine concentration [HPO term]
- Elevated circulating long chain fatty acid concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Enlarged kidney [HPO term]
- Enlarged polycystic kidneys [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal onset [HPO term]
- Fever [HPO term]
- Hepatic calcification [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High, sloping forehead [HPO term]
- High-arched palate [HPO term]
- Hydronephrosis [HPO term]
- Hyperammonemia [HPO term]
- Hypoglycemia [HPO term]
- Hypoplastic toenails [HPO term]
- Hypotonia [HPO term]
- Increased liver function tests [HPO term]
- Increased muscle lipid content [HPO term]
- Increased total bilirubin [HPO term]
- Intracerebral periventricular calcifications [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Lethargy [HPO term]
- Lipid accumulation in hepatocytes [HPO term]
- Long fingers [HPO term]
- Long tapered fingers [HPO term]
- Long toe [HPO term]
- Long-chain dicarboxylic aciduria [HPO term]
- Low-set ears [HPO term]
- Macrovesicular hepatic steatosis [HPO term]
- Microcephaly [HPO term]
- Narrow palate [HPO term]
- Nasal congestion [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal respiratory distress [HPO term]
- Nonketotic hypoglycemia [HPO term]
- Oligohydramnios [HPO term]
- Overfolded helix [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Renal dysplasia [HPO term]
- Renal insufficiency [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Sloping forehead [HPO term]
- Tapered finger [HPO term]
- Tapered toe [HPO term]
- Ureteral duplication [HPO term]
- Ventriculomegaly [HPO term]
- Vomiting [HPO term]
- Wide intermamillary distance [HPO term]
- obsolete Elevated serum long-chain fatty acids [HPO term]
ORDO concept(s)
- Carnitine palmitoyl transferase II deficiency, neonatal form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
See also inter- (CISMeF)
- Neonatal form of carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine palmitoyl transferase II deficiency, neonatal form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, neonatal form [ICD-11 More detail]
- carnitine palmitoyltransferase II deficiency, lethal neonatal [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency, lethal neonatal [MeSH concept]
Validated automatic mappings to NTBT
- carnitine palmitoyltransferase II deficiency [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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